研究动态
Articles below are published ahead of final publication in an issue. Please cite articles in the following format: authors, (year), title, journal, DOI.

在Lynch综合征个体中,与皮肤肿瘤相关的临床因素的纵向观察队列研究。

Clinical factors associated with skin neoplasms in individuals with Lynch syndrome in a longitudinal observational cohort.

发表日期:2023 Feb 09
作者: Connie S Zhong, Miki Horiguchi, Hajime Uno, Chinedu Ukaegbu, Anu Chittenden, Nicole R LeBoeuf, Sapna Syngal, Vinod E Nambudiri, Matthew B Yurgelun
来源: J Am Acad Dermatol

摘要:

对于患有林奇综合症(LS)的个体而言,关于患皮肤肿瘤的患者特定风险因素所知甚少。确定与LS患者皮肤肿瘤发展有关的临床因素。对在Dan-Farber癌症研究所进行临床遗传学治疗的18岁及以上的LS携带者(MLH1、MSH2、MSH6、PMS2或EPCAM的被确认为有病原性的生殖细胞突变)进行系统收集临床数据,时间从2000年1月至2020年3月。进行多元逻辑回归来评估与皮肤肿瘤相关的临床因素。607名LS携带者中,有9.2%患有LS相关的皮肤肿瘤,15.0%患有非LS相关的皮肤肿瘤;58.2% (353/607)有先前的皮肤科评估记录;29.7%(38/128)患有皮肤肿瘤的病人缺乏与脏器LS相关的癌症病史。LS相关的皮肤肿瘤与男性、年龄、种族、MLH1病原性生殖细胞突变、MSH2/EPCAM病原性生殖细胞突变以及非LS皮肤肿瘤的个人病史显著相关。非LS相关的皮肤肿瘤显著相关于年龄、与患有非LS相关的皮肤肿瘤的一、二程亲属的数量,以及患有LS相关皮肤肿瘤的个人病史。单机构观察性研究;人群年龄相对均匀。LS患者常见皮肤肿瘤。我们确定了与LS相关和非LS相关皮肤肿瘤相关的临床因素。应考虑对所有LS携带者进行定期皮肤科观察。©2023美国皮肤科学会,Inc。由Elsevier Inc出版。保留所有权利。
Little is known about patient-specific risk factors for skin neoplasia in individuals with Lynch syndrome (LS).Identify clinical factors associated with development of skin neoplasms in LS.Clinical data were systematically collected on a cohort of LS carriers (confirmed pathogenic germline variants in MLH1, MSH2, MSH6, PMS2, or EPCAM) age ≥18 undergoing clinical genetics care at Dana-Farber Cancer Institute from January 2000 to March 2020. Multivariable logistic regression was performed to evaluate clinical factors associated with skin neoplasia.Of 607 LS carriers, 9.2% had LS-associated skin neoplasia and 15.0% had non-LS-associated skin neoplasia; 58.2% (353/607) had documentation of prior dermatologic evaluation; 29.7% (38/128) with skin neoplasms lacked a history of visceral LS-associated malignancy. LS-associated skin neoplasms were significantly associated with male sex, age, race, MLH1 pathogenic germline variants, MSH2/EPCAM pathogenic germline variants, and personal history of non-LS skin neoplasms. Non-LS-associated skin neoplasms was significantly associated with age, number of first- and second-degree relatives with non-LS-associated skin neoplasms, and personal history of LS-associated skin neoplasms.Single-institution observational study; demographic homogeneity.Skin neoplasms are common in individuals with LS. We identified clinical factors associated with LS- and non-LS-associated skin neoplasms. Regular dermatologic surveillance should be considered for all LS carriers.Copyright © 2023 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.